ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.4604del (p.Asp1535fs)

dbSNP: rs2495470269
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Immunology and Genetics Kaiserslautern RCV003507991 SCV004363629 pathogenic Autism, susceptibility to, 17 2024-02-02 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2, PS2; Variant was found in heterozygous state

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.